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rs369483167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs369483167(A;A)
Make rs369483167(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position94378967
GeneCEP83
is asnp
is mentioned by
dbSNPrs369483167
dbSNP (classic)rs369483167
ClinGenrs369483167
ebirs369483167
HLIrs369483167
Exacrs369483167
Gnomadrs369483167
Varsomers369483167
LitVarrs369483167
Maprs369483167
PheGenIrs369483167
Biobankrs369483167
1000 genomesrs369483167
hgdprs369483167
ensemblrs369483167
geneviewrs369483167
scholarrs369483167
googlers369483167
pharmgkbrs369483167
gwascentralrs369483167
openSNPrs369483167
23andMers369483167
SNPshotrs369483167
SNPdbers369483167
MSV3drs369483167
GWAS Ctlgrs369483167
Max Magnitude0
ClinVar
Risk rs369483167(A;A)
Alt rs369483167(A;A)
Reference Rs369483167(G;G)
Significance Pathogenic
Disease Nephronophthisis 18
Variation info
Gene CEP83 CCDC41
CLNDBN Nephronophthisis 18
Reversed 0
HGVS NC_000012.11:g.94772743G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000128444.3,